Found: 123
Select item for more details and to access through your institution.
Implication of species change of Nontuberculous Mycobacteria during or after treatment.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea.
- Published in:
- 2020
- By:
- Publication type:
- letter
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03331-6
- By:
- Publication type:
- Article
Comparison of factors influencing landslide risk near a forest road in Chungju-si, South Korea.
- Published in:
- Geoenvironmental Disasters, 2024, v. 11, n. 1, p. 1, doi. 10.1186/s40677-024-00267-8
- By:
- Publication type:
- Article
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 3, p. 242, doi. 10.3343/alm.2018.38.3.242
- By:
- Publication type:
- Article
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 54, doi. 10.3343/alm.2018.38.1.54
- By:
- Publication type:
- Article
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 6, p. 516, doi. 10.3343/alm.2017.37.6.516
- By:
- Publication type:
- Article
Clinical and Molecular Characteristics of PRKACA L206R Mutant Cortisol-Producing Adenomas in Korean Patients.
- Published in:
- Endocrinology & Metabolism, 2021, v. 36, n. 6, p. 1287, doi. 10.3803/EnM.2021.1217
- By:
- Publication type:
- Article
Diagnosis for Pheochromocytoma and Paraganglioma: A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force.
- Published in:
- Endocrinology & Metabolism, 2021, v. 36, n. 2, p. 322, doi. 10.3803/EnM.2020.908
- By:
- Publication type:
- Article
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
- Published in:
- Endocrinology & Metabolism, 2020, v. 35, n. 4, p. 909, doi. 10.3803/EnM.2020.756
- By:
- Publication type:
- Article
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
- Published in:
- Diabetes & Metabolism Journal, 2024, v. 48, n. 3, p. 482, doi. 10.4093/dmj.2023.0078
- By:
- Publication type:
- Article
A Case of Locally Advanced Breast Cancer Complicated by Pulmonary Tumor Thrombotic Microangiopathy.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Impact of Treatment on Long-Term Survival of Patients With Mycobacterium avium Complex Pulmonary Disease.
- Published in:
- Clinical Infectious Diseases, 2023, v. 77, n. 1, p. 120, doi. 10.1093/cid/ciad108
- By:
- Publication type:
- Article
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 275, doi. 10.1007/s10048-012-0327-8
- By:
- Publication type:
- Article
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 5, p. 676, doi. 10.1111/exd.14313
- By:
- Publication type:
- Article
Nationwide External Quality Assessment of SARS-CoV-2 Molecular Testing, South Korea.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Stereotypic neutralizing V<sub>H</sub> antibodies against SARS-CoV-2 spike protein receptor binding domain in patients with COVID-19 and healthy individuals.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 578, p. 1, doi. 10.1126/scitranslmed.abd6990
- By:
- Publication type:
- Article
Plasma vs. serum in circulating tumor DNA measurement: characterization by DNA fragment sizing and digital droplet polymerase chain reaction.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 4, p. 527, doi. 10.1515/cclm-2019-0896
- By:
- Publication type:
- Article
Hb variants in Korea: effect on HbA<sub>1c</sub> using five routine methods.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 8, p. 1234, doi. 10.1515/cclm-2016-0865
- By:
- Publication type:
- Article
Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 7, p. 1157, doi. 10.1515/cclm-2015-0611
- By:
- Publication type:
- Article
Clinical application of the Panbio™ COVID-19 Ag rapid test device and SSf-COVID19 kit for the detection of SARS-CoV-2 infection.
- Published in:
- BMC Research Notes, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13104-022-06226-6
- By:
- Publication type:
- Article
Estimation of the Structural and Geomechanical Anisotropy in Fault Gouges Using 3D Micro-Computed Tomography (μ-CT).
- Published in:
- Sensors (14248220), 2020, v. 20, n. 17, p. 4706, doi. 10.3390/s20174706
- By:
- Publication type:
- Article
Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2811, doi. 10.3390/ijms25052811
- By:
- Publication type:
- Article
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0306-2
- By:
- Publication type:
- Article
Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID‐19 progression.
- Published in:
- Proteomics, 2021, v. 21, n. 11/12, p. 1, doi. 10.1002/pmic.202000278
- By:
- Publication type:
- Article
638. Comparative Genomics of Mycoplasma pneumoniae Isolated From Children with Pneumonia: South Korea, 2010–2016.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S295, doi. 10.1093/ofid/ofz360.706
- By:
- Publication type:
- Article
Effects of Earthquake on Behavior Characteristics of Fault Gouge in Time-History Analysis of Slope.
- Published in:
- Advances in Materials Science & Engineering, 2022, p. 1, doi. 10.1155/2022/2456807
- By:
- Publication type:
- Article
Strabismus in chronic progressive external ophthalmoplegia.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 2, p. e274, doi. 10.1111/aos.14558
- By:
- Publication type:
- Article
PRRT2 mutation in Korean patients with paroxysmal kinesigenic dyskinesia: A clinico-genetic analysis.
- Published in:
- Neurology Asia, 2014, v. 19, n. 4, p. 357
- By:
- Publication type:
- Article
Self-Reported Exposure to Second-Hand Smoke and Positive Urinary Cotinine in Pregnant Nonsmokers.
- Published in:
- Yonsei Medical Journal, 2009, v. 50, n. 3, p. 345, doi. 10.3349/ymj.2009.50.3.345
- By:
- Publication type:
- Article
A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0142-6
- By:
- Publication type:
- Article
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
- Published in:
- Molecular Vision, 2019, v. 25, p. 679
- By:
- Publication type:
- Article
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
- Published in:
- Breast Cancer Research & Treatment, 2015, v. 151, n. 1, p. 157, doi. 10.1007/s10549-015-3377-4
- By:
- Publication type:
- Article
A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2014, v. 146, n. 1, p. 63, doi. 10.1007/s10549-014-3006-7
- By:
- Publication type:
- Article
Comparison of Measurable Residual Disease in Pediatric B-Lymphoblastic Leukemia Using Multiparametric Flow Cytometry and Next-Generation Sequencing.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 4, p. 354, doi. 10.3343/alm.2023.0412
- By:
- Publication type:
- Article
The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 3, p. 303, doi. 10.3343/alm.2023.0361
- By:
- Publication type:
- Article
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 6, p. 638, doi. 10.3343/alm.2023.43.6.638
- By:
- Publication type:
- Article
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 280, doi. 10.3343/alm.2023.43.3.280
- By:
- Publication type:
- Article
Guidelines for the Laboratory Diagnosis of Monkeypox in Korea.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 2, p. 137, doi. 10.3343/alm.2023.43.2.137
- By:
- Publication type:
- Article
Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 6, p. 678, doi. 10.3343/alm.2022.42.6.678
- By:
- Publication type:
- Article
Guidelines for Mobile Laboratories for Molecular Diagnostic Testing of COVID-19.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 5, p. 507, doi. 10.3343/alm.2022.42.5.507
- By:
- Publication type:
- Article
Update of Guidelines for Laboratory Diagnosis of COVID-19 in Korea.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 4, p. 391, doi. 10.3343/alm.2022.42.4.391
- By:
- Publication type:
- Article
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 384, doi. 10.3343/alm.2022.42.3.384
- By:
- Publication type:
- Article
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 3, p. 373, doi. 10.3343/alm.2022.42.3.373
- By:
- Publication type:
- Article
SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 2, p. 213, doi. 10.3343/alm.2022.42.2.213
- By:
- Publication type:
- Article
Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 110, doi. 10.3343/alm.2022.42.1.110
- By:
- Publication type:
- Article